title: Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation.
abstract: Cerebro-costo-mandibular syndrome (CCMS) describes a triad of mandibular hypoplasia, brain dysfunction and posterior rib defects ("rib gaps"). We present the CT imaging for a 2-year-old girl with CCMS that highlights the rib gap defects and shows absent transverse processes with abnormal fusion of the ribs directly to the vertebral bodies. We argue that this is likely to relate to abnormal lateral sclerotome development in embryology, with the failure of normal costo-vertebral junctions compounding impaired thoracic function. The case also highlights the use of CT for specific indications in skeletal dysplasia.
authors.affiliation: Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK.
authors.forename: Tom Anthony
authors.initials: TA
authors.lastname: Watson
authors.forename: Owen John
authors.initials: OJ
authors.lastname: Arthurs
authors.forename: Nagarajan
authors.initials: N
authors.lastname: Muthialu
authors.forename: Alistair Duncan
authors.initials: AD
authors.lastname: Calder
mesh_terms: D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008844:Micrognathism / Q000000981:diagnostic imaging*; D061330:Multidetector Computed Tomography / Q000379:methods*; D013902:Radiography, Thoracic / Q000379:methods*; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging